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Huntington's Disease

National Organization for Rare Disorders, Inc.

ImportantIt is possible that the main title of the report Huntington's Disease is not the name you expected.

Disorder Subdivisions

None

General Discussion

Huntington's disease is a genetic, progressive, neurodegenerative disorder characterized by the gradual development of involuntary muscle movements affecting the hands, feet, face, and trunk and progressive deterioration of cognitive processes and memory (dementia). Neurologic movement abnormalities may include uncontrolled, irregular, rapid, jerky movements (chorea) and athetosis, a condition characterized by relatively slow, writhing involuntary movements. Dementia is typically associated with progressive disorientation and confusion, personality disintegration, impairment of memory control, restlessness, agitation, and other symptoms and findings. In individuals with the disorder, disease duration may range from approximately 10 years up to 25 years or more. Life-threatening complications may result from pneumonia or other infections, injuries related to falls, or other associated developments.

Huntington's disease is transmitted as an autosomal dominant trait. The disease results from changes (mutations) of a gene known as "huntington" located on the short arm (p) of chromosome 4 (4p16.3). In those with the disorder, the huntington gene contains errors in the coded "building blocks" (nucleotide bases) that make up the gene's instructions. The gene contains abnormally long repeats of coded instructions consisting of the basic chemicals cytosine, adenine, and guanine (CAG trinucleotide repeat expansion). The length of the expanded repeats may affect the age at symptom onset. The specific symptoms and physical features associated with Huntington's disease result from degeneration of nerve cells (neurons) within certain areas of the brain (e.g., basal ganglia, cerebral cortex).

Supporting Organizations

Advocacy for Neuroacanthocytosis Patients

32 Launceston Place

London, W8 5RN

United Kingdom

Tel: 4402079372938

Email: ginger@naadvocacy.org

Website: http://www.naadvocacy.org

Alzheimer's Foundation of America

322 8th Ave, 7th Floor

New York, NY 10001

USA

Tel: (866)232-8484

Fax: (646)638-1546

Tel: (866)232-8484

Email: info@alzfdn.org

Website: http://www.alzfdn.org

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

Website: http://rarediseases.info.nih.gov/GARD/

Hereditary Disease Foundation, Inc.

3960 Broadway, 6th Floor

New York, NY 10032

Tel: (212)928-2121

Fax: (212)928-2172

Email: cures@hdfoundation.org

Website: http://www.hdfoundation.org

Huntington Society of Canada

151 Frederick St, Suite 400

Kitchner

Ontario, N2H 2M2

Canada

Tel: 5197497063

Fax: 5197498965

Tel: 8009987398

Email: info@huntingtonsociety.ca

Website: http://www.huntingtonsociety.ca/english/index.asp

Huntington's Disease Society of America

505 Eighth Avenue

Suite 902

New York, NY 10018

USA

Tel: (212)242-1968

Fax: (212)239-3430

Tel: (800)345-4372

Email: hdsainfo@hdsa.org

Website: http://www.hdsa.org

Huntington's Disease Youth Organization

116 Yewdale Crescent

Coventry

CV2 2FT

Tel: (782)179-9554

Email: questions@hdyo.org

Website: http://www.HDYO.org

March of Dimes

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)997-4488

Fax: (914)997-4763

Email: AskUs@marchofdimes.org or preguntas@nacersano.org

Website: http://www.marchofdimes.org and nacersano.org

Movement Disorder Society

555 E. Wells Street

Suite 1100

Milwaukee, WI 53202-3823

Tel: (414)276-2145

Fax: (414)276-3349

Email: info@movementdisorders.org

Website: http://www.movementdisorders.org

NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801

Bethesda, MD 20824

Tel: (301)496-5751

Fax: (301)402-2186

Tel: (800)352-9424

Website: http://www.ninds.nih.gov/

New Horizons Un-Limited, Inc.

811 East Wisconsin Ave

P.O. Box 510034

Milwaukee, WI 53203

USA

Tel: (414)299-0124

Fax: (414)347-1977

Email: horizons@new-horizons.org

Website: http://www.new-horizons.org

UCSF Memory and Aging Center

350 Parnassus Avenue

Suite 905

San Francisco, CA 94117

Tel: (415)476-6880

Fax: (415)476-4800

Email: mgeschwind@memory.ucsf.edu

Website: http://www.memory.ucsf.edu

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated: 8/15/2008Copyright 2007 National Organization for Rare Disorders, Inc.

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